Article
Biochemistry & Molecular Biology
Danial Jahantigh, Saeedeh Ghazaey Zidanloo, Seyedeh Zahra Moossavi, Forough Forghani
Summary: Functional single nucleotide polymorphisms (SNPs) in the IL-12B gene can significantly affect protein expression or modify its functions, potentially leading to immune disorders. The relationship between common IL-12B SNPs and the risk of preeclampsia (PE) has been unclear. A case-control study genotyped 253 PE patients and 250 healthy subjects for IL-12B rs3212227 and IL-12B rs6887695 SNPs. In-silico analysis was also conducted to assess the potential functions of these polymorphisms. The results showed an association between the rs3212227 variation in the IL-12B gene and susceptibility to PE. The rs6887695 SNP correlated negatively with PE development and had a protective effect on PE risk. The study also found certain haplotypes of IL-12B to be more prevalent in PE patients.
Article
Environmental Sciences
Huimin Wang, Guangzhi Yang, Dawei Sun, Boshen Wang, Hao Chen, Mengyao Chen, Baoli Zhu
Summary: The study found an association between genetic polymorphisms rs10499080 and rs6568819 within the HDAC2 gene and the risk of NIHL, indicating that workers exposed to noise with HDAC2 have a lower risk of NIHL.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Review
Immunology
Livius Penter, Satyen H. Gohil, Catherine J. Wu
Summary: Blood malignancies offer unique opportunities for studying disease evolution and monitoring anti-tumor immune changes. The development of single-cell sequencing technologies allows us to delve into the underlying mechanisms at an unprecedented level of detail. The identification of molecular events as in-vivo barcodes enables tracking of malignant and immune cell populations over time.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Byung Woo Yoon, Hyun-Tae Shin, Je Hyun Seo
Summary: This study provides insights into the genetic differences in prostate cancer incidence among different ethnicities, using data on single-nucleotide polymorphisms associated with prostate cancer. The study reveals that the polygenic risk score, as well as certain genes such as AR, CDKN1B, and MAD1L1, are associated with ethnic differences in prostate cancer.
Article
Nutrition & Dietetics
Yu-Min Huang, Weu Wang, Po-Pin Hsieh, Hsin-Hung Chen
Summary: The genetic effect of obesity plays a significant role in the development of an obesogenic environment. Genes rs712221 and rs2016520 are associated with obesity and show a synergistic effect, increasing the risk of obesity.
Article
Medicine, General & Internal
Antonia Msafiri Makene, Jun-Lin Liu
Summary: This study identified multiple polymorphic loci in the CARD14 gene associated with susceptibility to psoriasis and confirmed the significant correlation of several loci with the development of psoriasis. Bioinformatic analysis further demonstrated the impact of these loci on gene function and identified two protective haplotypes for the disease.
Article
Geriatrics & Gerontology
Yanfei Wei, Shuzhen Liu, Jiansheng Cai, Xu Tang, Junling Zhang, Min Xu, Qiumei Liu, Chunmei Wei, Xiaoting Mo, Shenxiang Huang, Yinxia Lin, Tingyu Mai, Dechan Tan, Tingyu Luo, Ruoyu Gou, Huaxiang Lu, Jian Qin, Zhiyong Zhang
Summary: The study revealed that TFEB gene polymorphisms and their haplotypes could potentially impact cognitive function among the rural Chinese population.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Article
Endocrinology & Metabolism
Yang Sun, Ye Lv, Hui-Wen Ren, Guan-Yu Wang, Li-Na Xuan, Yi-Yang Luo, Zhi-Lin Luan
Summary: The study found a significant association between MAP3K4 and schizophrenia in the Northeast Chinese Han population, with certain SNPs showing strong correlation with the disease.
METABOLIC BRAIN DISEASE
(2022)
Article
Endocrinology & Metabolism
Alecia Vang, Kelley Salem, Amy M. Fowler
Summary: The objective of this systematic review was to investigate the association between polymorphisms in the progesterone receptor gene (PGR) and breast cancer risk. Forty studies met the eligibility criteria and included 75,032 cases and 89,425 controls. Several PGR polymorphisms were found to be associated with breast cancer risk in some studies, but the overall pooled analysis did not show a significant association. Factors such as age, ethnicity, obesity, and postmenopausal hormone therapy use were reported to contribute to differences in breast cancer risk associated with PGR polymorphisms.
Article
Genetics & Heredity
Karolina Golabek, Grzegorz Raczka, Jadwiga Gazdzicka, Katarzyna Miskiewicz-Orczyk, Natalia Zieba, Lukasz Krakowczyk, Dorota Hudy, Marek Asman, Maciej Misiolek, Joanna Katarzyna Strzelczyk
Summary: This study is the first to investigate the association between LTF gene polymorphisms and the risk of oral squamous cell carcinoma (OSCC), as well as its influence on TNM staging and histological grading. The G/G genotype of rs2073495 and rs4637321 were found to be associated with an increased risk of OSCC. However, no significant influences were observed between LTF genotype and TNM staging or histological grading.
Article
Biochemistry & Molecular Biology
Haoling Xie, Wen Li, Yuqiong Hu, Cheng Yang, Jiansen Lu, Yuqing Guo, Lu Wen, Fuchou Tang
Summary: This study achieved high continuity human genome assembly using single-cell genome long-read sequencing technology and explored the impact of different assemblers and sequencing strategies on genome assembly. It is of great significance for the practice of single-cell genome de novo assembly.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Multidisciplinary Sciences
Paolo Alberto Lorenzini, Elena Gusareva, Amit Gourav Ghosh, Nurul Adilah Binte Ramli, Peter Rainer Preiser, Hie Lim Kim
Summary: Positive selection signals in the CR1 gene were detected in populations from East India and Papua New Guinea, associated with a slower rate of erythrocyte sedimentation and low CR1 expression levels. Additionally, a variant in West Africans was identified, also related to low CR1 expression. This study provides insight into the history of human adaptation against cerebral malaria through population genomic analysis.
Article
Immunology
Paola Antonello, Diego U. Pizzagalli, Mathilde Foglierini, Serena Melgrati, Egle Radice, Sylvia Thelen, Marcus Thelen
Summary: Chemotaxis is an essential process in tumors metastasis, and in this study, ACKR3 was found to control the migration of lymphoma cells in response to CXCL12. The interaction between LTB4 and CXCL12 enhances the migration of lymphoma cells, providing a novel mechanism for cell-to-cell-induced migration.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
M. K. Verma, S. Shakya
Summary: Chemokines play a role in immune modulation through their receptors, with HIV targeting the CCR-5 receptor to enter immune cells and evade immune surveillance. Mutations in the CCR-5 gene provide resistance against HIV infection in some populations.
Article
Environmental Sciences
Yue Gao, Yang Liu, Yuting Jiang, Ming Qin, Zhizhong Guan, Yanhui Gao, Yanmei Yang
Summary: This cross-sectional study evaluated the association between ATP2B1 gene polymorphisms and skeletal fluorosis. A total of 962 individuals, including 342 cases of skeletal fluorosis, were recruited in China. Four TP2BA1 polymorphisms (rs2070759, rs12817819, rs17249754, and rs7136259) were analyzed. The results indicated that rs17249754 and rs7136259 were associated with skeletal fluorosis. After controlling for confounders, the GG genotype of rs17249754 showed a protective effect in individuals aged over 45, female, with urine fluoride concentration below 1.6 mg/L, serum calcium above 2.25 mmol/L, or serum phosphorus between 1.1 and 1.3. The heterozygote TC of rs7136259 increased the risk of skeletal fluorosis in elderly, female subjects with urinary fluoride concentration above 1.6 mg/L, serum calcium above 2.25 mmol/L, and blood phosphorus between 1.1 and 1.3 mmol/L. Linkage disequilibrium analysis revealed a tight relationship among the four loci, and the distribution frequency of haplotype GCGT was lower in the skeletal fluorosis group.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL HEALTH RESEARCH
(2023)
Article
Agriculture, Dairy & Animal Science
P. A. S. Fonseca, F. S. Schenkel, A. Canovas
Summary: This study investigated the genetic basis of stillbirth in dairy cattle and identified 31 potential functional candidate genes associated with reproductive performance.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Biotechnology & Applied Microbiology
Shi-Yi Chen, Flavio S. Schenkel, Ana L. P. Melo, Hinayah R. Oliveira, Victor B. Pedrosa, Andre C. Araujo, Melkaye G. Melka, Luiz F. Brito
Summary: In this study, a genome-wide association study was conducted to identify important SNPs and candidate genes associated with fertility and reproduction traits in Holstein cattle. The results provide valuable insights into the biological mechanisms underlying these traits.
Article
Agriculture, Dairy & Animal Science
Lucas M. Alcantara, Christine F. Baes, Gerson A. de Oliveira Junior, Flavio S. Schenkel
Summary: This study assessed the association of 26 conformation traits with Pro$ using multiple polynomial regression and principal component analysis. The results showed that heel depth and body depth had the highest and lowest effect on Pro$ values, respectively, while traits like teat length showed a significant linear association with Pro$. The study provides important information for guiding the Canadian dairy industry on how to consider conformation traits in recording and genetic evaluation programs.
CANADIAN JOURNAL OF ANIMAL SCIENCE
(2022)
Review
Agriculture, Dairy & Animal Science
Saranya G. Narayana, Ellen de Jong, Flavio S. Schenkel, Pablo A. S. Fonseca, Tatiane C. S. Chud, Diana Powell, Garrett Wachoski-Dark, Paul E. Ronksley, Filippo Miglior, Karin Orsel, Herman W. Barkema
Summary: This study conducted a systematic review and gene prioritization analysis of genome-wide association studies on resistance to mastitis in dairy cattle, and identified potential functional candidate genes associated with mastitis resistance. The findings are important for developing enhanced genomic strategies to combat mastitis by increasing mastitis resistance through genetic selection.
JOURNAL OF DAIRY SCIENCE
(2023)
Article
Agriculture, Dairy & Animal Science
Saeed Shadpour, Tatiane C. S. Chud, Dagnachew Hailemariam, Hinayah R. Oliveira, Graham Plastow, Paul Stothard, Jan Lassen, Ransom Baldwin, Filippo Miglior, Christine F. Baes, Dan Tulpan, Flavio S. Schenkel
Summary: This study aimed to improve DMI predictions of Canadian Holstein cows using milk MIRS data with the help of artificial neural networks (ANN). Different ANN architectures were explored to predict unobserved DMI, and the robustness of developed prediction models was validated by analyzing data from dairy cows in Canada, Denmark, and the United States.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Multidisciplinary Sciences
Audrey A. A. Martin, Samir Id-Lahoucine, Pablo A. S. Fonseca, Christina M. Rochus, Lucas M. Alcantara, Dan Tulpan, Stephen J. LeBlanc, Filippo Miglior, Joaquim Casellas, Angela Canovas, Christine F. Baes, Flavio S. Schenkel
Summary: This study aimed to determine the genetic background of gametic incompatibility in Holstein cattle. By conducting a transmission ratio distortion analysis on a large number of genotyped Holstein cattle, genomic regions and functional candidate genes associated with gametic incompatibility were identified. The findings suggest that further investigation of gametic incompatibility will provide opportunities to improve mate allocation for the dairy cattle industry.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Samir Id-Lahoucine, Joaquim Casellas, Pablo A. S. Fonseca, Aroa Suarez-Vega, Flavio S. Schenkel, Angela Canovas
Summary: This study discovered the phenomenon of transmission ratio distortion (TRD) on the X-chromosome and revealed different TRD patterns and functional candidate genes.
Article
Agriculture, Dairy & Animal Science
Ivan L. Campos, Tatiane C. S. Chud, Gerson A. Oliveira, Christine F. Baes, Angela Canovas, Flavio S. Schenkel
Summary: This study estimated the genetic parameters for heat tolerance of milk, fat, and protein yields in Canadian Holstein cows. The results showed an antagonistic relationship between production level and heat tolerance, but the correlation was moderate, indicating the possibility of selecting animals with high genetic merit for production and heat tolerance.
Article
Biology
Jinhuan Dou, Abdul Sammad, Angela Canovas, Flavio Schenkel, Tahir Usman, Maria Malane Magalhaes Muniz, Kaijun Guo, Yachun Wang
Summary: This study identified differentially expressed mRNA isoforms and their role in the thermoregulatory mechanisms during acute heat stress in rats. The findings offer insights into the complex molecular mechanisms underlying heat stress response and provide potential candidates for thermotolerance selection in mammals.
Article
Agriculture, Dairy & Animal Science
Nienke van Staaveren, Emma Hyland, Kerry Houlahan, Colin Lynch, Filippo Miglior, David F. Kelton, Flavio S. Schenkel, Christine F. Baes
Summary: Calf diseases pose challenges for dairy producers in terms of economics and animal welfare. Genetic selection for disease resistance in calves is a promising approach for sustainable dairy farming. However, clear definitions, standardized recording practices, and data transfer procedures are needed to successfully include calf health traits in genetic evaluations.
CANADIAN JOURNAL OF ANIMAL SCIENCE
(2023)
Article
Genetics & Heredity
Samir Id-Lahoucine, Joaquim Casellas, Filippo Miglior, Flavio S. Schenkel, Angela Canovas
Summary: This study identified biological mechanisms affecting fertility and viability of sperm and ova, leading to observable transmission ratio distortion. Gene-by-gene interactions were found to cause specific transmission distortion patterns. Using genotypic and allelic parameterization, several pairs of loci with epistatic transmission ratio distortion were identified, providing insights into economically important traits such as reproduction.
FRONTIERS IN GENETICS
(2023)
Article
Agriculture, Dairy & Animal Science
Stephanie Kamalanathan, Kerry Houlahan, Filippo Miglior, Tatiane C. S. Chud, Dave J. Seymour, Dagnachew Hailemariam, Graham Plastow, Hinayah R. de Oliveira, Christine F. Baes, Flavio S. Schenkel
Summary: Dairy cows contribute to greenhouse gas emissions from livestock, and strategies involving genetics and breeding can be used to reduce methane emissions. This study assessed three definitions for methane emission traits and their genetic parameters in Holstein cattle. The heritability of daily methane production, methane yield, and methane intensity was estimated, and a high genetic correlation was found between daily methane production and methane intensity. This study suggests that genetic selection can potentially mitigate methane emissions in Holstein cattle.
Meeting Abstract
Agriculture, Dairy & Animal Science
K. Hoeksema, K. Houlahan, H. R. Oliveira, F. Miglior, F. S. Schenkel, C. F. Baes
JOURNAL OF DAIRY SCIENCE
(2022)
Meeting Abstract
Agriculture, Dairy & Animal Science
R. Bongers, K. Houlahan, F. Miglior, H. Oliveira, F. S. Schenkel, C. F. Baes
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Agriculture, Dairy & Animal Science
Sunduimijid Bolormaa, Iona M. MacLeod, Majid Khansefid, Leah C. Marett, William J. Wales, Filippo Miglior, Christine F. Baes, Flavio S. Schenkel, Erin E. Connor, Coralia I. Manzanilla-Pech, Paul Stothard, Emily Herman, Gert J. Nieuwhof, Michael E. Goddard, Jennie E. Pryce
Summary: Sharing individual cow data between international partners and using sequence variants from international cow data's GWAS to evaluate the accuracy of genomic estimated breeding values (GEBV) for residual feed intake (RFI) in Australian cows can improve the accuracy of GEBV. The study suggests that a meta-analysis of summary GWAS statistics could provide selected SNPs for custom panels to use in genomic selection programs. Further confirmation through larger studies is recommended.
GENETICS SELECTION EVOLUTION
(2022)